Literature DB >> 7196531

"Cap disease": new congenital myopathy.

A Fidzianska, B Badurska, B Ryniewicz, I Dembek.   

Abstract

Entities:  

Mesh：

Year:  1981        PMID： 7196531     DOI： 10.1212/wnl.31.9.1113

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  8 in total

1.  Follow-up studies in a case of unusual congenital myopathy, suggestive of nemaline type.

Authors:  E Gibbels; K Kellermann; H J Schädlich; R Adams; W F Haupt
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088

2.  Myopathy and hypertrophic cardiomyopathy with selective lysis of thick filaments.

Authors:  E Bertini; C Bosman; G Salviati; R Boldrini; S Servidei; E Ricci; F Del Nonno; M G Gagliardi; M Bevilacqua
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1993

Review 3.  Congenital myopathies.

Authors:  Adele D'Amico; Enrico Bertini
Journal:  Curr Neurol Neurosci Rep       Date:  2008-01       Impact factor: 5.081

4.  Approach to the diagnosis of congenital myopathies.

Authors:  Kathryn N North; Ching H Wang; Nigel Clarke; Heinz Jungbluth; Mariz Vainzof; James J Dowling; Kimberly Amburgey; Susana Quijano-Roy; Alan H Beggs; Caroline Sewry; Nigel G Laing; Carsten G Bönnemann
Journal:  Neuromuscul Disord       Date:  2013-11-18       Impact factor: 4.296

Review 5.  Congenital myopathies: clinical phenotypes and new diagnostic tools.

Authors:  Denise Cassandrini; Rosanna Trovato; Anna Rubegni; Sara Lenzi; Chiara Fiorillo; Jacopo Baldacci; Carlo Minetti; Guja Astrea; Claudio Bruno; Filippo M Santorelli
Journal:  Ital J Pediatr       Date:  2017-11-15       Impact factor: 2.638

6.  Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review.

Authors:  Kiran Polavarapu; Mainak Bardhan; Ram Murthy Anjanappa; Seena Vengalil; Veeramani Preethish-Kumar; Leena Shingavi; Tanushree Chawla; Saraswati Nashi; Dhaarini Mohan; Gautham Arunachal; Thenral S Geetha; Vedam Ramprasad; Atchayaram Nalini
Journal:  J Clin Neurol       Date:  2021-07       Impact factor: 3.077

7.  Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.

Authors:  Saba Abdul-Hussein; Karin Rahl; Ali-Reza Moslemi; Homa Tajsharghi
Journal:  PLoS One       Date:  2013-09-10       Impact factor: 3.240

8.  Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Authors:  Minttu Marttila; Vilma-Lotta Lehtokari; Steven Marston; Tuula A Nyman; Christine Barnerias; Alan H Beggs; Enrico Bertini; Ozge Ceyhan-Birsoy; Pascal Cintas; Marion Gerard; Brigitte Gilbert-Dussardier; Jacob S Hogue; Cheryl Longman; Bruno Eymard; Moshe Frydman; Peter B Kang; Lars Klinge; Hanna Kolski; Hans Lochmüller; Laurent Magy; Véronique Manel; Michèle Mayer; Eugenio Mercuri; Kathryn N North; Sylviane Peudenier-Robert; Helena Pihko; Frank J Probst; Ricardo Reisin; Willie Stewart; Ana Lia Taratuto; Marianne de Visser; Ekkehard Wilichowski; John Winer; Kristen Nowak; Nigel G Laing; Tom L Winder; Nicole Monnier; Nigel F Clarke; Katarina Pelin; Mikaela Grönholm; Carina Wallgren-Pettersson
Journal:  Hum Mutat       Date:  2014-05-01       Impact factor: 4.878
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.